Turner Syndrome: Violet's Story
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Denise and Chad were told their daughter had only a 1 percent chance of surviving to term. Overwhelmed, they turned to CHOP for hope – and for the chance to see their daughter Violet become the happy, active child she is today.
When Denise was 12 weeks into her pregnancy, she went in for a first-trimester screening, a combination of a blood test and ultrasound imaging. “During the beginning of the ultrasound we were thrilled to see our baby,” she remembers. “But looking back we realize the technician did not say a word. Our blissful happy family moment changed dramatically when, all of a sudden, several other people came into the room — doctors, nurses and geneticists. They told us there were some major concerns with our baby. We were numb as the doctors pointed out the large amount fluid behind the neck and said it was most likely Turner syndrome (TS).”
In that meeting, and over the next few weeks, Denise and Chad learned about Turner syndrome, a chromosomal disorder in girls that is associated with stunted growth and heart disease. As with Violet, fluid buildup on the back of the neck, visible by ultrasound before birth, is a key indicator. Once a child is born, TS is often identified by swollen hands and feet and cardiac abnormalities. Turner syndrome can also be associated with other health problems, including kidney and hearing abnormalities. And, as the child grows older, short stature, learning problems and ovarian failure can occur.
Two weeks after the ultrasound, blood test results confirmed the Turner syndrome diagnosis. Feeling lost and without direction, Chad and Denise were anxious for help and wanted a doctor to see them immediately. They made an appointment at a local hospital. There an ultrasound showed new problems: fluid buildup (hydrops) in the heart, lungs, abdomen and spine. “The doctor started crying,” says Denise. “She strongly suggested termination. She said it was the worst case she had ever seen.” Chad and Denise left that appointment feeling overwhelmed with emotions. “In the car ride home, we decided together that, no matter what, we will not terminate,” says Denise. “If we do not believe in our baby, who will?” For greater certainty, an amniotic fluid test was conducted. The results also confirmed their unborn daughter had Turner syndrome.
Chad did research on the condition. He even contacted the Turner Syndrome Society to find out which doctors and hospitals treat the condition. Fortunately, one of the country’s top care centers isn’t far from their Harrisburg, PA home. The Turner Syndrome Program at Children’s Hospital of Philadelphia (CHOP) brings together a multidisciplinary team to treat and care for girls with Turner syndrome. Chad called CHOP to make an appointment.
At 26 weeks, Denise and Chad made the trip to Philadelphia. Denise had a new ultrasound and the couple met with Nahla Khalek, MD, an attending high-risk obstetrician in CHOP’s Center for Fetal Diagnosis and Treatment. “She was amazing and so encouraging.” Denise remembers. She gave us a pamphlet showing four cute little girls with different aspects of Turner syndrome. She answered our questions and listened to our concerns. We left CHOP feeling so relieved. We were now thinking:
“She is going to be OK. If we can get her here, she will be OK.”
Denise came back to CHOP for monthly appointments for the rest of her pregnancy. At each appointment, the outlook improved for their daughter. The fluid around her heart began to disappear, followed by the fluid around her lungs and on the back of her neck. A fetal echocardiogram at one of the appointments showed a small heart problem — a slight narrowing (coarctation) of the aorta and a slight underdevelopment of the aortic valve (bicuspid aortic valve). Neither was deemed a serious health risk. The initial plan had been to deliver at CHOP, but as Denise neared her due date the medical team decided it would be safe for her to deliver closer to home in Harrisburg, where a local cardiologist could check her heart soon after birth.
Violet was born at 37 weeks and weighed just under 7 pounds at birth. “Hearing her little voice crying was so beautiful, sweet and special” Denise says. “We were so happy to have her in our arms, we did not sleep that night. We held her for 39 hours straight and just soaked up every second.”
When she was 8 weeks old, her parents brought Violet to CHOP. The experts who examined her that day included Vaneeta Bamba, MD, Medical Director of the Growth Center and Director of the Turner Syndrome Program, geneticist Elaine Zackai, MD, and Denise Gruccio, DNP, CRNP, PNP-BC, a nurse practitioner in the Turner Syndrome Program. “It was an intense visit,” Chad recalls “but it was obvious that every member of the medical team took their role extremely seriously and that we were in the best hands.” X-rays were taken of Violet’s arms and legs, which were very small. Her heart was also checked with an echocardiogram and an electrocardiogram (EKG).
The medical team let Denise and Chad know that, at least for now, no treatment was needed. They would monitor her growth by staying in close communication with her pediatricians and cardiologist in Harrisburg (all of whom had completed their residencies at CHOP). At some point, as Violet grew older, she would likely benefit from growth hormone, but this was not needed yet.
Violet was a happy and active baby. She met her developmental milestones without delay. She started on the low end of the standard growth chart and is now tracked in comparison to other children with Turner syndrome. At 3, she is wearing 12- to 18-month clothes.
When she turned 3, Violet began to receive treatment with growth hormones. Denise and Chad were trained at CHOP, and they now give Violet the hormone injections every night. She calls it “her pinch.” “It hasn’t been easy,” Denise says “But in time, I’m sure it will get better. She knows it is helping her grow.”
“She’s tiny and fast,” says Denise. “She loves to run around and dress herself as different superheroes or princesses. She’ll change four times a day, from Tinkerbell to Spiderman to Jessie from Toy Story. Recently, she has taken to dressing up like her friend Dr. Bamba. She also likes to draw and play with Play-Doh. She’s very loving and caring. And she’s feisty — when she makes up her mind about something she lets us know. We love the Shakespeare quote: ‘And though she be but little, she is fierce.’ It perfectly sums her up!”
After the dire outlook leading up to her birth, Denise and Chad can hardly believe that they have a delightful little girl. And they appreciate the people at CHOP for helping make it all possible. “They know so much,” says Denise. “They are a special group of people who really care. They have brought a brightness to every situation we’ve come through.”
“We have confidence in Violet’s future knowing they are with us. They are angels and we love that they love our little girl. We can’t thank CHOP enough.”